Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

Am J Med Genet A. 2012 Nov;158A(11):2963-8. doi: 10.1002/ajmg.a.35595. Epub 2012 Sep 17.

Authors

Luis Fernández¹, Julián Nevado, María L De Torres, Elena Mansilla, Elena Vallespín, Sixto García-Miñaúr, Rebeca Palomo, Lucía Deirós, Marta Cabrera, Elia Dina Galo, Pablo Lapunzina, Alicia Delicado

Affiliation

¹ Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain. [email protected]

PMID: 22987734
DOI: 10.1002/ajmg.a.35595

No abstract available

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MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
Dosage Compensation, Genetic*
Female
Humans
Male
Pregnancy